Linked Data
ClinVar Variation Id:
202270
dbSNP Id:
rs372633280
ExAC:
2:179478846 A / G
gnomAD v2:
2-179478846-A-G
gnomAD v3:
2-178614119-A-G
gnomAD v4:
2-178614119-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614119A>G , CM000664.2:g.178614119A>G | GRCh38 |
| NC_000002.11:g.179478846A>G , CM000664.1:g.179478846A>G | GRCh37 |
| NC_000002.10:g.179187091A>G | NCBI36 |
| NG_011618.3:g.221684T>C , LRG_391:g.221684T>C | |
| NG_051363.1:g.96293A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41574T>C (TTN) | ENSP00000343764.6:p.Ala13858= | |
| ENST00000342175.11:c.22659T>C (TTN) | ENSP00000340554.6:p.Ala7553= | |
| ENST00000359218.10:c.22458T>C (TTN) | ENSP00000352154.5:p.Ala7486= | |
| ENST00000342175.10:c.22659T>C (TTN) | ENSP00000340554.6:p.Ala7553= | |
| ENST00000342992.10:c.41574T>C (TTN) | ENSP00000343764.6:p.Ala13858= | |
| ENST00000359218.9:c.22458T>C (TTN) | ENSP00000352154.5:p.Ala7486= | |
| ENST00000460472.6:c.22083T>C (TTN) | ENSP00000434586.1:p.Ala7361= | |
| ENST00000589042.5:c.49278T>C (TTN) MANE Select | ENSP00000467141.1:p.Ala16426= | |
| ENST00000591111.5:c.44355T>C (TTN) | ENSP00000465570.1:p.Ala14785= | |
| ENST00000615779.4:c.44355T>C (TTN) | ENSP00000483597.1:p.Ala14785= | |
| NM_001256850.1:c.44355T>C (TTN) | NP_001243779.1:p.Ala14785= | |
| NM_001267550.2:c.49278T>C (TTN) MANE Select | NP_001254479.2:p.Ala16426= | |
| NM_003319.4:c.22083T>C (TTN) | NP_003310.4:p.Ala7361= | |
| NM_133378.4:c.41574T>C (TTN) | NP_596869.4:p.Ala13858= | |
| NM_133432.3:c.22458T>C (TTN) | NP_597676.3:p.Ala7486= | |
| NM_133437.4:c.22659T>C (TTN) | NP_597681.4:p.Ala7553= | |
| NR_038271.1:n.867A>G (TTN-AS1) | ||
| XM_011511729.1:c.48375T>C (TTN) | XP_011510031.1:p.Ala16125= | |
| XM_011511730.1:c.22269T>C (TTN) | XP_011510032.1:p.Ala7423= | |
| XM_011511731.1:c.22128T>C (TTN) | XP_011510033.1:p.Ala7376= | |
| XM_017004819.1:c.48171T>C (TTN) | XP_016860308.1:p.Ala16057= | |
| XM_017004820.1:c.43569T>C (TTN) | XP_016860309.1:p.Ala14523= | |
| XM_017004821.1:c.43566T>C (TTN) | XP_016860310.1:p.Ala14522= | |
| XM_017004822.1:c.40608T>C (TTN) | XP_016860311.1:p.Ala13536= | |
| XM_017004823.1:c.22224T>C (TTN) | XP_016860312.1:p.Ala7408= | |
| XM_024453094.1:c.43719T>C (TTN) | XP_024308862.1:p.Ala14573= | |
| XM_024453095.1:c.43716T>C (TTN) | XP_024308863.1:p.Ala14572= | |
| XM_024453096.1:c.43149T>C (TTN) | XP_024308864.1:p.Ala14383= | |
| XM_024453097.1:c.40491T>C (TTN) | XP_024308865.1:p.Ala13497= | |
| XM_024453098.1:c.40410T>C (TTN) | XP_024308866.1:p.Ala13470= | |
| XM_024453099.1:c.22173T>C (TTN) | XP_024308867.1:p.Ala7391= | |
| XM_024453100.1:c.12027T>C (TTN) | XP_024308868.1:p.Ala4009= |